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Disease Browser
Parent Node:
expandLipodystrophy, Congenital Generalized (D052497)
..Starting node
..expandLipodystrophy, Congenital Generalized, Type 4 (C567642)

       Child Nodes:



 Sister Nodes: 
..expandLipodystrophy, Congenital Generalized, Type 3 (C567282)
..expandLipodystrophy, Congenital Generalized, Type 4 (C567642)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6469
Name:Lipodystrophy, Congenital Generalized, Type 4
Definition:
Alternative IDs:OMIM:613327
ParentIDs:MESH:D052497
TreeNumbers:C16.320.565.398.745/C567642 |C17.800.849.391.550/C567642 |C18.452.584.625.550/C567642 |C18.452.648.398.745/C567642 |C18.452.880.391.550/C567642
Synonyms:Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy |CGL4 |Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C567642
MeSH: C567642
OMIM: 613327;

Genes: PTRF;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000956Acanthosis nigricans
4 HP:0005110Atrial fibrillation
5 HP:0001662Bradycardia
6 HP:0002019Constipation
7 HP:0002720Decreased circulating IgA level
8 HP:0002015Dysphagia
9 HP:0003236Elevated circulating creatine kinase concentration
10 HP:0002910Elevated hepatic transaminase
11 HP:0003546Exercise intolerance
12 HP:0001508Failure to thrive
13 HP:0011968Feeding difficulties
14 HP:0001371Flexion contracture
15 HP:0003324Generalized muscle weakness
16 HP:0001397Hepatic steatosis
17 HP:0002240Hepatomegaly
18 HP:0001007HirsutismHP:0040283
19 HP:0000842Hyperinsulinemia
20 HP:0003307Hyperlordosis
21 HP:0002155Hypertriglyceridemia
22 HP:0002595Ileus
23 HP:0000855Insulin resistance
24 HP:0009125Lipodystrophy
25 HP:0003719Muscle mounding
26 HP:0003552Muscle stiffness
27 HP:0003560Muscular dystrophy
28 HP:0003326Myalgia
29 HP:0000938Osteopenia
30 HP:0000939Osteoporosis
31 HP:0001657Prolonged QT interval
32 HP:0001544Prominent umbilicus
33 HP:0003701Proximal muscle weakness
34 HP:0002021Pyloric stenosis
35 HP:0002719Recurrent infections
36 HP:0002650Scoliosis
37 HP:0003712Skeletal muscle hypertrophy
38 HP:0003306Spinal rigidity
39 HP:0001744Splenomegaly
40 HP:0001649Tachycardia
Disease Causing ClinVar Variants