Multiple congenital anomalies - hypotonia - seizures syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MCAHS1
Number of Symptoms 50
OrphanetNr: 280633
OMIM Id: 614080
ICD-10: Q87.8
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: Congenital disorder of glycosylation with developmental anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000076) Vesicoureteral reflux rare [HPO:skoehler] 94 / 7739
3
 (HPO:0000034) Hydrocele testis 18 / 7739
4
 (HPO:0000110) Renal dysplasia 44 / 7739
5
 (HPO:0100673) Vaginal hydrocele 8 / 7739
6
 (HPO:0000343) Long philtrum 262 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000194) Open mouth 70 / 7739
9
 (HPO:0000280) Coarse facial features 189 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000256) Macrocephaly frequent [HPO:skoehler] 298 / 7739
12
 (HPO:0000233) Thin vermilion border 124 / 7739
13
 (HPO:0005280) Depressed nasal bridge 381 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0004482) Relative macrocephaly 44 / 7739
16
 (HPO:0000341) Narrow forehead 96 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000639) Nystagmus 555 / 7739
19
 (HPO:0000646) Amblyopia 42 / 7739
20
 (HPO:0002265) Large fleshy ears 5 / 7739
21
 (HPO:0000396) Overfolded helix 21 / 7739
22
 (HPO:0002267) Exaggerated startle response 42 / 7739
23
 (HPO:0001347) Hyperreflexia frequent [HPO:skoehler] 363 / 7739
24
 (HPO:0001266) Choreoathetosis frequent [HPO:skoehler] 57 / 7739
25
 (HPO:0001265) Hyporeflexia 208 / 7739
26
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
27
 (HPO:0001250) Seizures 1245 / 7739
28
 (HPO:0001337) Tremor 200 / 7739
29
 (HPO:0001263) Global developmental delay 853 / 7739
30
 (HPO:0001561) Polyhydramnios 191 / 7739
31
 (HPO:0002023) Anal atresia 135 / 7739
32
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
33
 (HPO:0002025) Anal stenosis 23 / 7739
34
 (HPO:0001869) Deep plantar creases 14 / 7739
35
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
36
 (HPO:0001631) Atria septal defect 274 / 7739
37
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
38
 (HPO:0010547) Muscle flaccidity 466 / 7739
39
 (HPO:0001324) Muscle weakness 859 / 7739
40
 (HPO:0001252) Muscular hypotonia 990 / 7739
41
 (OMIM) Prominent sutures 1 / 7739
42
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
43
 (OMIM) Upturned nares 4 / 7739
44
 (OMIM) Trabecular bladder (2 of 7 patients) 1 / 7739
45
 (HPO:0003577) Congenital onset 133 / 7739
46
 (OMIM) Increased birth weight 6 / 7739
47
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
48
 (OMIM) Wandering eyes 1 / 7739
49
 (HPO:0001355) Megalencephaly 39 / 7739
50
 (OMIM) Persistent foramen ovale 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years ...
Clinical Description OMIM Maydan et al. (2011) reported 7 patients from a large consanguineous Arab Israeli kindred with a syndrome characterized by severe neurologic impairment, lack of development, seizures, and multiple congenital anomalies resulting in early death. Most of the affected ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing in affected members of a consanguineous Arab Israeli family with multiple congenital anomalies and neurologic impairment, Maydan et al. (2011) identified a homozygous mutation in the PIGN gene (R709Q; 606097.0001). ...