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encyclopedia of Rare Disease Annotation for Precision Medicine



   allan-herndon-dudley syndrome
  

Disease ID 625
Disease allan-herndon-dudley syndrome
Definition
A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.
Synonym
ahds
allan-herndon syndrome
allan-herndon-dudley syndrome (ahds)
mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency
mental retardation and muscular atrophy
mental retardation, x-linked, with hypotonia
monocarboxylate transporter 8 (mct8) deficiency
monocarboxylate transporter 8 deficiency
monocarboxylate transporter 8 deficiency (disorder)
monocarboxylate transporter-8 deficiency
t3 resistance
triiodothyronine resistance
x-linked mental retardation with hypotonia
Orphanet
OMIM
DOID
UMLS
C0795889
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:3)
C0018784  |  sensorineural hearing loss  |  1
C0030486  |  paraplegia  |  1
C0025362  |  mental retardation  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
6567  |  SLC16A2  |  CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:15)
6900  |  CNTN2  |  2.12  |  DISEASES
117154  |  DACH2  |  3.97  |  DISEASES
1741  |  DLG3  |  2.713  |  DISEASES
80712  |  ESX1  |  2.364  |  DISEASES
4356  |  MPP3  |  3.317  |  DISEASES
5077  |  PAX3  |  1.535  |  DISEASES
5080  |  PAX6  |  1.289  |  DISEASES
7849  |  PAX8  |  2.368  |  DISEASES
5230  |  PGK1  |  2.011  |  DISEASES
5329  |  PLAUR  |  2.159  |  DISEASES
117247  |  SLC16A10  |  5.926  |  DISEASES
23428  |  SLC7A8  |  3.527  |  DISEASES
53919  |  SLCO1C1  |  5.415  |  DISEASES
7068  |  THRB  |  1.804  |  DISEASES
9203  |  ZMYM3  |  3.438  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
SLC16A2  |  Xq13.2
Disease ID 625
Disease allan-herndon-dudley syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:59)
HP:0010864  |  Intellectual disability, severe
HP:0000767  |  Funnel chest
HP:0000520  |  Proptosis
HP:0002307  |  Sialorrhea
HP:0001258  |  Spastic paraplegia, lower limb
HP:0000020  |  Urinary incontinence
HP:0006887  |  Intellectual disability, progressive
HP:0000464  |  Abnormality of the neck
HP:0001344  |  Absent speech
HP:0000508  |  Ptosis
HP:0002305  |  Involuntary writhing movements
HP:0000821  |  Underactive thyroid
HP:0000582  |  Upslanted palpebral fissure
HP:0007598  |  Bilateral single transverse palmar creases
HP:0001251  |  Ataxia
HP:0010669  |  Cheekbone underdevelopment
HP:0008583  |  Underfolded superior helices
HP:0010864  |  Early and severe mental retardation
HP:0002925  |  Increased serum thyroid-stimulating hormone
HP:0011344  |  Severe global developmental delay
HP:0002188  |  Delayed CNS myelination
HP:0000194  |  Open mouth
HP:0006887  |  Progressive mental retardation
HP:0009004  |  Hypoplasia of the musculature
HP:0008872  |  Feeding difficulties in infancy
HP:0100651  |  Type I diabetes mellitus
HP:0002415  |  Degeneration of white matter of brain
HP:0000252  |  Small head circumference
HP:0001288  |  Gait disturbance
HP:0001822  |  Hallux valgus
HP:0002607  |  Bowel incontinence
HP:0000400  |  Large ears
HP:0002650  |  Scoliosis
HP:0002169  |  Clonus
HP:0000275  |  Narrow face
HP:0100022  |  Abnormality of movement
HP:0000395  |  Prominent antihelix
HP:0002514  |  Cerebral calcification
HP:0003700  |  Diffuse muscle wasting
HP:0002540  |  Inability to walk
HP:0000411  |  Protruding ear
HP:0001583  |  Rotatory Nystagmus
HP:0001371  |  Flexion contractures of joints
HP:0001347  |  Hyperreflexia
HP:0000341  |  Narrow bitemporal diameter
HP:0000549  |  Abnormal conjugate eye movement
HP:0002510  |  Spastic quadriplegia
HP:0001387  |  Joint stiffness
HP:0004422  |  Biparietal narrowing
HP:0000400  |  Macrotia
HP:0001763  |  Pes planus
HP:0000737  |  Irritability
HP:0003487  |  Extensor plantar reflexes
HP:0100490  |  Camptodactyly of finger
HP:0001260  |  Dysarthric speech
HP:0002381  |  Aphasia
HP:0100015  |  Spock ear
HP:0001319  |  Hypotonia, in neonatal onset
HP:0003202  |  Skeletal muscle atrophy
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:6)
Disease ID 625
Disease allan-herndon-dudley syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
SLC16A2-doi:10.1038/gim.2015.51Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:22)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894931NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74529355TC
rs104894936NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74521008CA,T
rs104894938NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74531414TC
rs104894939NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74525802TG
rs104894940NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74525844CA
rs113994162NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74421996CT
rs113994164NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74529320CTT-
rs113994166NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74531545C-
rs122455132NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74529232TC
rs367543059NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74529295TC
rs387906501NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74521020TCT-
rs587784382NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74524699CT
rs587784383NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74524762GA
rs587784384NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74525834CT
rs587784386NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74421914CT
rs766773277NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74524723CA
rs794726932NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74421963GA
rs794726933NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74421990AC
rs797045962NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74529434-C
rs797045963NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2X74531407GTAATCCT-
rs797045965NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74421893C-
rs797045966NA6567SLC16A2umls:C0795889CLINVARNA0.565700279NASLC16A2;LOC105373252X74422011A-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:16)
HP ID HP Name MP ID MP Name Annotation
HP:0002540Inability to walkMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0008872Feeding difficulties in infancyMP:0011075abnormal macrophage activation involved in immune responseanomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0001319Neonatal hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0001387Joint stiffnessMP:0003098decreased tendon stiffnessreduced ability of tendon to maintain tensile strength and load
HP:0100490Camptodactyly of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000464Abnormality of the neckMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0100651Type I diabetes mellitusMP:0004803increased susceptibility to autoimmune diabetesgreater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
HP:0006887Intellectual disability, progressiveMP:0000748progressive muscle weaknessincreasing loss of muscle strength over time
HP:0003202Skeletal muscle atrophyMP:0014068abnormal muscle glycogen levelthe normal concentration of a readily converted carbohydrate reserve in muscle tissue
HP:0010669Hypoplasia of the zygomatic boneMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0100022Abnormality of movementMP:0005223abnormal dorsal-ventral polarity of the somitesanomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
HP:0000582Upslanted palpebral fissureMP:0012535abnormal optic fissure closurefailure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r
HP:0000020Urinary incontinenceMP:0003280urinary incontinenceinability to control the urinary bladder excretory functions leading to involuntary urination
HP:0011344Severe global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0000411Protruding earMP:0005105abnormal middle ear ossicle morphologyany structural anomaly of the three small bones of the middle ear
HP:0002925Thyroid-stimulating hormone excessMP:0005468abnormal thyroid hormone levelaberrant concentration of any of the hormones secreted by the thyroid gland
Mapped by homologous gene(Total Items:56)
HP ID HP Name MP ID MP Name Annotation
HP:0007598Bilateral single transverse palmar creasesMP:0012279wide sternuman increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs
HP:0001258Spastic paraplegiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0009004Hypoplasia of the musculatureMP:0011100preweaning lethality, complete penetrancedeath of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0002307DroolingMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0011344Severe global developmental delayMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001344Absent speechMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000411Protruding earMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002381AphasiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000508PtosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000275Narrow faceMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001288Gait disturbanceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003202Skeletal muscle atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001371Flexion contractureMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003700Generalized amyotrophyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001319Neonatal hypotoniaMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0006887Intellectual disability, progressiveMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002415LeukodystrophyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0100022Abnormality of movementMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000549Abnormal conjugate eye movementMP:0010088decreased circulating fructosamine leveldecrease in the concentration in the blood of total non enzymatic glycated proteins in the blood
HP:0001583Rotary nystagmusMP:0013438dysmyelinationreduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
HP:0002510Spastic tetraplegiaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000821HypothyroidismMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0002540Inability to walkMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
HP:0001260DysarthriaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002169ClonusMP:0013401increased endometrial gland numbergreater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus
HP:0002305AthetosisMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100490Camptodactyly of fingerMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002188Delayed CNS myelinationMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000582Upslanted palpebral fissureMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000737IrritabilityMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000767Pectus excavatumMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000020Urinary incontinenceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001822Hallux valgusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0100651Type I diabetes mellitusMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000194Open mouthMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000520ProptosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000395Prominent antihelixMP:0013026decreased Ly6C low monocyte numberdecrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
HP:0008583Underfolded superior helicesMP:0010069increased serotonin levelincrease in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
HP:0010864Intellectual disability, severeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0008872Feeding difficulties in infancyMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0100015Stahl earMP:0011967increased or absent threshold for auditory brainstem responseincrease in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o
HP:0002607Bowel incontinenceMP:0013438dysmyelinationreduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
HP:0002514Cerebral calcificationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004422Biparietal narrowingMP:0012431increased lymphoma incidencegreater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0002925Thyroid-stimulating hormone excessMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0001387Joint stiffnessMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000400MacrotiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001763Pes planusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003487Babinski signMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0010669Hypoplasia of the zygomatic boneMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000341Narrow foreheadMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000464Abnormality of the neckMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
Disease ID 625
Disease allan-herndon-dudley syndrome
Case(Waiting for update.)