Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCataract (D002386)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandNervous System Diseases (D009422)
..Starting node
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-Methylacyl-CoA Racemase Deficiency (C565768)
..expandAutoimmune Diseases of the Nervous System (D020274) Child60
..expandAutonomic Nervous System Diseases (D001342) Child51
..expandCentral Nervous System Diseases (D002493) Child1489
..expandChronobiology Disorders (D021081) Child5
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..expandCranial Nerve Diseases (D003389) Child238
..expandDemyelinating Diseases (D003711) Child75
..expandMarcus Gunn phenomenon (C535908)
..expandNervous System Malformations (D009421) Child567
..expandNervous System Neoplasms (D009423) Child89
..expandNeurocutaneous Syndromes (D020752) Child42
..expandNeurodegenerative Diseases (D019636) Child704
..expandNeurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..expandNeurologic Manifestations (D009461) Child1586
..expandNeuromuscular Diseases (D009468) Child811
..expandNeuronal intestinal pseudoobstruction (C537394)
..expandNeurotoxicity Syndromes (D020258) Child20
..expandNorrie disease (C537849)
..expandPolyglucosan Body Disease, Adult Form (C564878)
..expandRestless Legs Syndrome (D012148) Child2
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandSleep Disorders (D012893) Child41
..expandTang Hsi Ryu syndrome (C536897)
..expandTrauma, Nervous System (D020196) Child73
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2601
Name:Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Definition:
Alternative IDs:OMIM:604168
ParentIDs:MESH:D002386|MESH:D009422|MESH:D019465
TreeNumbers:C05.660.207/C565822 |C10/C565822 |C11.510.245/C565822 |C16.131.621.207/C565822
Synonyms:Cataract, Congenital, With Facial Dysmorphism And Neuropathy |CCFDN
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C565822
MeSH: C565822
OMIM: 604168;

Genes: CTDP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001999Abnormal facial shape
4 HP:0000164Abnormality of the dentition
5 HP:0008942Acute rhabdomyolysis
6 HP:0001251Ataxia
7 HP:0003487Babinski sign
8 HP:0002059Cerebral atrophy
9 HP:0002072Chorea
10 HP:0100543Cognitive impairment
11 HP:0003431Decreased motor nerve conduction velocity
12 HP:0008214Decreased serum estradiol
13 HP:0008734Decreased testicular sizeHP:0040283
14 HP:0000519Developmental cataract
15 HP:0002816Genu recurvatum
16 HP:0001263Global developmental delay
17 HP:0000815Hypergonadotropic hypogonadism
18 HP:0000044Hypogonadotropic hypogonadism
19 HP:0001249Intellectual disability
20 HP:0002751Kyphoscoliosis
21 HP:0010620Malar prominence
22 HP:0000482Microcornea
23 HP:0001270Motor delay
24 HP:0007178Motor polyneuropathy
25 HP:0000639Nystagmus
26 HP:0000764Peripheral axonal degeneration
27 HP:0011096Peripheral demyelination
28 HP:0007182Peripheral hypomyelination
29 HP:0001761Pes cavus
30 HP:0000786Primary amenorrheaHP:0040283
31 HP:0004322Short stature
32 HP:0001171Split hand
33 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004715.4(CTDP1):c.863+389C>T9150CTDP1Pathogenic113994102RCV000005622; YMedGen:C1858726,OMIM:604168187747082577470825NM_004715.4:c.863+389C>TNC_000018.9:g.77470825C>TOMIM Allelic Variant:604927.0001C1858726 604168 Congenital Cataracts, Facial Dysmorphism, and Neuropathy