eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| infantile refsum disease | ||||
| Disease ID | 387 |
|---|---|
| Disease | infantile refsum disease |
| Definition | An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. |
| Synonym | adrenoleukodystrophy, autosomal neonatal disease, infantile refsum disease, infantile refsum's infantile form of phytanic acid storage disease infantile phytanic acid storage dis infantile phytanic acid storage disease infantile refsum dis infantile refsum disease (disorder) infantile refsum's disease infantile refsum's disease (disorder) infantile refsums dis infantile refsums disease pbd1b peroxisome biogenesis disorder (nald/ird) peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease) peroxisome biogenesis disorder 1b refsum dis infantile refsum disease, infantile refsum disease, infantile [disease/finding] refsum disease, infantile form refsum's disease, infantile refsums dis infantile refsums disease, infantile |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0282527 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:13) 5828 | PEX2 | CTD_human;ORPHANET 55670 | PEX26 | CTD_human;ORPHANET 5189 | PEX1 | ORPHANET;UNIPROT 5830 | PEX5 | ORPHANET 5194 | PEX13 | ORPHANET 5193 | PEX12 | ORPHANET 5192 | PEX10 | ORPHANET 5195 | PEX14 | ORPHANET 8799 | PEX11B | ORPHANET 5824 | PEX19 | ORPHANET 9409 | PEX16 | ORPHANET 5190 | PEX6 | ORPHANET 8504 | PEX3 | ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 5825 | ABCD3 | 3.458 | DISEASES 30 | ACAA1 | 2.858 | DISEASES 54942 | FAM206A | 4.541 | DISEASES 10020 | GNE | 1.827 | DISEASES 8443 | GNPAT | 4.557 | DISEASES 3295 | HSD17B4 | 4.468 | DISEASES 5824 | PEX19 | 2.232 | DISEASES 5828 | PEX2 | 5.62 | DISEASES 55670 | PEX26 | 4.414 | DISEASES 8504 | PEX3 | 4.151 | DISEASES 5830 | PEX5 | 7.663 | DISEASES 5251 | PHEX | 4.58 | DISEASES 6223 | RPS19 | 1.619 | DISEASES 6342 | SCP2 | 2.432 | DISEASES 10478 | SLC25A17 | 4.183 | DISEASES |
| Locus | Symbol | Locus(Total Locus:13) |
| Disease ID | 387 |
|---|---|
| Disease | infantile refsum disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0003323 | Progressive muscle weakness HP:0000518 | Cataract HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0010628 | Facial palsy HP:0005930 | Abnormality of epiphysis morphology HP:0001257 | Spasticity HP:0001251 | Ataxia HP:0000407 | Sensorineural hearing impairment HP:0000271 | Abnormality of the face HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0011675 | Arrhythmia HP:0000510 | Rod-cone dystrophy HP:0001508 | Failure to thrive HP:0000648 | Optic atrophy HP:0002240 | Hepatomegaly HP:0001638 | Cardiomyopathy HP:0000505 | Visual impairment HP:0007981 | Concentric narrowing of visual fields HP:0001252 | Muscular hypotonia HP:0010571 | Elevated levels of phytanic acid HP:0008064 | Ichthyosis HP:0000662 | Nyctalopia HP:0008167 | Very long chain fatty acid accumulation |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 387 |
|---|---|
| Disease | infantile refsum disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28939678 | 9539740 | 5189 | PEX1 | umls:C0282527 | UNIPROT | HsPEX1 expression restored peroxisomal protein import in fibroblasts from three patients with ZS and NALD of complementation group I (CG-I), which is the highest-incidence PBD. | 0.240814326 | 1998 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010571 | Elevated levels of phytanic acid | MP:0005281 | increased fatty acid level | elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may |
| HP:0008167 | Very long chain fatty acid accumulation | MP:0005281 | increased fatty acid level | elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000510 | Rod-cone dystrophy | MP:0003225 | axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0003323 | Progressive muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
Mapped by homologous gene(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any 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:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any 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:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000510 | Rod-cone dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003323 | Progressive muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased 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:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any 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:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0010571 | Elevated levels of phytanic acid | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any 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:0008167 | Very long chain fatty acid accumulation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any 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 | 387 |
|---|---|
| Disease | infantile refsum disease |
| Case | (Waiting for update.) |