Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Lipodystrophy, Familial Partial (D052496)
..Starting node ..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
Child Nodes:
Sister Nodes:
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6473

Name:

Lipodystrophy with Congenital Cataracts and Neurodegeneration

Definition:

Alternative IDs:

ParentIDs:

MESH:D002386|MESH:D020271|MESH:D052496

TreeNumbers:

C10.574.500/C564669 |C11.510.245/C564669 |C16.320.400/C564669 |C17.800.849.391.700/C564669 |C18.452.584.625.700/C564669 |C18.452.880.391.700/C564669

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease

Reference:

MedGen: C564669
MeSH: C564669
OMIM: 606721;

Genes: CAV1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000271	Abnormality of the face
3	HP:0007485	Absence of subcutaneous fat
4	HP:0003487	Babinski sign
5	HP:0002169	Clonus
6	HP:0005995	Decreased adipose tissue around neck
7	HP:0000519	Developmental cataract
8	HP:0002936	Distal sensory impairment
9	HP:0001310	Dysmetria
10	HP:0002066	Gait ataxia
11	HP:0003124	Hypercholesterolemia
12	HP:0002155	Hypertriglyceridemia
13	HP:0000855	Insulin resistance
14	HP:0005320	Lack of facial subcutaneous fat
15	HP:0009125	Lipodystrophy
16	HP:0003635	Loss of subcutaneous adipose tissue in limbs
17	HP:0007340	Lower limb muscle weakness
18	HP:0000639	Nystagmus
19	HP:0000833	obsolete Glucose intolerance
20	HP:0001278	Orthostatic hypotension
21	HP:0001733	Pancreatitis
22	HP:0000580	Pigmentary retinopathy
23	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants