PedAM

Pediatric Disease Annotations & Medicines


	carpenter syndrome

Disease ID	413
Disease	carpenter syndrome
Definition	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
Synonym	acps ii acrocephalopolysyndactyly type 2 acrocephalopolysyndactyly type ii acrocephalopolysyndactyly type ii (disorder) carpenter 's syndrome carpenter syndrome (disorder) carpenter syndrome 1 carpenter's syndrome carpenter's syndrome (disorder) carpenters syndrome crpt1 type ii acrocephalopolysyndactyly
Orphanet	ORPHANET:65759
OMIM	OMIM:201000
DOID	DOID:0060234
UMLS	C1275078
SNOMED-CT	SNOMEDCT_US_2016_09_01:403767009;SNOMEDCT_US_2016_09_01:205813009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0442874 \| neuropathy \| 1 C0029132 \| optic neuropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) MEGF8 \| 1954 \| ORPHANET;GHR RAB23 \| 51715 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:20) 1158 \| CKM \| DISEASES 29954 \| POMT2 \| DISEASES 50937 \| CDON \| DISEASES 4036 \| LRP2 \| DISEASES 119 \| ADD2 \| DISEASES 1950 \| EGF \| DISEASES 60496 \| AASDHPPT \| DISEASES 10225 \| CD96 \| DISEASES 326 \| AIRE \| DISEASES 55582 \| KIF27 \| DISEASES 2619 \| GAS1 \| DISEASES 51715 \| RAB23 \| DISEASES 5727 \| PTCH1 \| DISEASES 157680 \| VPS13B \| DISEASES 8643 \| PTCH2 \| DISEASES 546 \| ATRX \| DISEASES 374654 \| KIF7 \| DISEASES 2737 \| GLI3 \| DISEASES 3267 \| AGFG1 \| DISEASES 388015 \| RTL1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) RAB23 \| 6p12.1-p11.2 MEGF8 \| 19q13.2

Disease ID	413
Disease	carpenter syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:26) HP:0000263 \| Oxycephaly HP:0001748 \| Polysplenia HP:0001162 \| Postaxial hand polydactyly HP:0000929 \| Abnormality of the skull HP:0000481 \| Abnormality of the cornea HP:0002676 \| Cloverleaf skull HP:0010442 \| Polydactyly HP:0000262 \| Turricephaly HP:0030680 \| Abnormality of cardiovascular system morphology HP:0006101 \| Finger syndactyly HP:0001156 \| Brachydactyly syndrome HP:0011304 \| Broad thumb HP:0001762 \| Talipes equinovarus HP:0002751 \| Kyphoscoliosis HP:0001363 \| Craniosynostosis HP:0001513 \| Obesity HP:0001770 \| Toe syndactyly HP:0001841 \| Preaxial foot polydactyly HP:0000028 \| Cryptorchidism HP:0012243 \| Abnormal genital system morphology HP:0002857 \| Genu valgum HP:0001643 \| Patent ductus arteriosus HP:0001537 \| Umbilical hernia HP:0001249 \| Intellectual disability HP:0003241 \| External genital hypoplasia HP:0001159 \| Syndactyly
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001138 \| Damaged optic nerve \| 1

Disease ID	413
Disease	carpenter syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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
rs121908171	NA	51715	RAB23	umls:C1275078	CLINVAR	NA	0.480814326	NA	RAB23	6	57194817	A	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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