Lung agenesis - heart defect - thumb anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: MARDINI-NYHAN ASSOCIATION
LACHT
Mardini--Nyhan syndrome
Number of Symptoms 38
OrphanetNr: 1120
OMIM Id: 601612
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic respiratory malformation
 -Rare genetic disease
Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Respiratory malformation
 -Rare respiratory disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
2
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
3
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
4
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
5
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
6
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
7
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
8
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
9
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
10
 (HPO:0009611) Bifid distal phalanx of the thumb Occasional [Orphanet] 15 / 7739
11
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
12
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
13
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
14
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
15
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
16
 (HPO:0006695) Atrioventricular canal defect Occasional [Orphanet] 27 / 7739
17
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
18
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
19
 (HPO:0001680) Coarctation of aorta 57 / 7739
20
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
21
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
22
 (HPO:0010772) Anomalous pulmonary venous return Frequent [Orphanet] 11 / 7739
23
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
24
 (HPO:0100682) Tracheal atresia 1 / 7739
25
 (HPO:0005944) Bilateral lung agenesis 4 / 7739
26
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
27
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 33 / 7739
28
 (OMIM) Dysplastic heart valves 1 / 7739
29
 (HPO:0003577) Congenital onset 133 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
32
 (OMIM) Total anomalous pulmonary return 1 / 7739
33
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
34
 (HPO:0003811) Neonatal death 44 / 7739
35
 (OMIM) Lung agenesis 1 / 7739
36
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739
37
 (OMIM) Single phalanx of the thumb 1 / 7739
38
 (OMIM) Duplication of the thumb 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).
Clinical Description OMIM Boxer et al. (1978) reported a female infant with agenesis of the left lung and total anomalous pulmonary venous return. She was noted to have tachypnea on day 2 of life. Chest radiographs showed absence of the left ...