Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr: 306504
OMIM Id: 614748
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basement membrane disease
 -Rare genetic disease
 -Rare renal disease
Genetic interstitial lung disease
 -Rare genetic disease
Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000092) Tubular atrophy 28 / 7739
3
 (HPO:0000097) Focal segmental glomerulosclerosis 3/3 [HPO:probinson] 22512483 IBIS 37 / 7739
4
 (HPO:0000100) Nephrotic syndrome 3/3 [HPO:probinson] 22512483 IBIS 83 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0002209) Sparse scalp hair 59 / 7739
7
 (HPO:0000311) Round face 104 / 7739
8
 (HPO:0000653) Sparse eyelashes 58 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0000160) Narrow mouth 188 / 7739
11
 (HPO:0000252) Microcephaly 832 / 7739
12
 (HPO:0011220) Prominent forehead 137 / 7739
13
 (HPO:0000400) Macrotia 108 / 7739
14
 (HPO:0000771) Gynecomastia 53 / 7739
15
 (HPO:0000774) Narrow chest 167 / 7739
16
 (HPO:0001030) Fragile skin 25 / 7739
17
 (HPO:0002213) Fine hair 77 / 7739
18
 (HPO:0008066) Abnormal blistering of the skin 3/3 [HPO:probinson] 22512483 IBIS 20 / 7739
19
 (HPO:0008404) Nail dystrophy 3/3 [HPO:probinson] 22512483 IBIS 89 / 7739
20
 (HPO:0003073) Hypoalbuminemia 40 / 7739
21
 (HPO:0005972) Respiratory acidosis 3 / 7739
22
 (HPO:0002205) Recurrent respiratory infections 2/3 [HPO:probinson] 22512483 IBIS 254 / 7739
23
 (HPO:0002098) Respiratory distress 3/3 [HPO:probinson] 22512483 IBIS 75 / 7739
24
 (HPO:0006530) Interstitial pulmonary disease 2/3 [HPO:probinson] 22512483 IBIS 26 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the integrin alpha-3 gene are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Patients exhibit a multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The ...
Clinical Description OMIM Has et al. (2012) described 3 unrelated children, a boy and 2 girls, who had congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa. The index patient was a boy from southern Italy who had respiratory distress ...
Molecular genetics OMIM In an Italian boy with congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa, who died at 7.5 months of age of a lung infection, Has et al. (2012) excluded mutation in the NPHS2 (604766) and WT1 ...