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:
expandDiabetes Mellitus (D003920)
Parent Node:
expandFacies (D019066)
Parent Node:
expandFetal Growth Retardation (D005317)
..Starting node
..expandDiabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)

       Child Nodes:



 Sister Nodes: 
..expandBowen-Conradi syndrome (C537081)
..expandCamptodactyly syndrome Guadalajara type 2 (C537971)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCraniomicromelic Syndrome (C566522)
..expandDiabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFinnish lethal neonatal metabolic syndrome (C537934)
..expandGranddad Syndrome (C564211)
..expandHoloprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLambotte syndrome (C537549)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandNeu Laxova syndrome (C536405)
..expandProgeroid syndrome, neonatal (C536423)
..expandRay Peterson Scott syndrome (C535292)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSharma Kapoor Ramji syndrome (C537595)
..expandShort stature and locking fingers (C537603)
..expandThymic-Renal-Anal-Lung dysplasia (C536907)
..expandTrichohepatoenteric Syndrome (C565627)
..expandWoods Leversha Rogers syndrome (C536744)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3301
Name:Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
Definition:
Alternative IDs:OMIM:609069
ParentIDs:MESH:D003920|MESH:D005317|MESH:D019066
TreeNumbers:C13.703.277.370/C563796 |C16.300.390/C563796 |C18.452.394.750/C563796 |C19.246/C563796 |C23.550.291.812/C563796 |C23.550.393.450/C563796
Synonyms:DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS |PACA |Pancreatic and Cerebellar Agenesis
Slim Mappings:Endocrine system disease|Fetal disease|Metabolic disease|Pathology (process)|Pregnancy complication
Reference: MedGen: C563796
MeSH: C563796
OMIM: 609069;

Genes: PTF1A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000377Abnormality of the pinna
3 HP:0012642Cerebellar agenesis
4 HP:0000444Convex nasal ridge
5 HP:0001522Death in infancy
6 HP:0001508Failure to thrive
7 HP:0001387Joint stiffness
8 HP:0000369Low-set ears
9 HP:0000252Microcephaly
10 HP:0000609Optic nerve hypoplasia
11 HP:0010557Overlapping fingersHP:0040283
12 HP:0000768Pectus carinatumHP:0040283
13 HP:0003758Reduced subcutaneous adipose tissue
14 HP:0001684Secundum atrial septal defectHP:0040283
15 HP:0001250Seizure
16 HP:0000331Short chin
17 HP:0000325Triangular face
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_178161.2(PTF1A):c.886C>T (p.Arg296Ter)256297PTF1APathogenic104894186RCV000003594; NMedGen:C1836780,OMIM:609069,ORPHA:65288102348273423482734NM_178161.2:c.886C>TNP_835455.1:p.Arg296TerNC_000010.10:g.23482734C>TOMIM Allelic Variant:607194.0001C1836780 609069 Diabetes mellitus, permanent neonatal, with cerebellar agenesis