Cataract - intellectual deficit - hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT-MENTAL RETARDATION-HYPOGONADISM
Martsolf syndrome
Number of Symptoms 71
OrphanetNr: 1387
OMIM Id: 212720
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000054) Micropenis 257 / 7739
5
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
8
 (HPO:0000221) Furrowed tongue Very frequent [Orphanet] 24 / 7739
9
 (HPO:0000692) Misalignment of teeth 18 / 7739
10
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
13
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
16
 (HPO:0000455) Broad nasal tip 67 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
19
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
20
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
21
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
22
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
23
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
24
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
25
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
26
 (HPO:0009738) Abnormality of the antihelix Occasional [Orphanet] 37 / 7739
27
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
28
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
29
 (HPO:0008593) Prominent antitragus 2 / 7739
30
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
31
 (HPO:0010864) Intellectual disability, severe 120 / 7739
32
 (HPO:0004405) Prominent nipples 2 / 7739
33
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
34
 (HPO:0010049) Short metacarpal 99 / 7739
35
 (HPO:0004684) Talipes valgus 28 / 7739
36
 (HPO:0001831) Short toe 52 / 7739
37
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
38
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
39
 (HPO:0009803) Short phalanx of finger 79 / 7739
40
 (HPO:0100759) Clubbing of fingers Frequent [Orphanet] 40 / 7739
41
 (HPO:0011300) Broad fingertip 2 / 7739
42
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
43
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
44
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
45
 (HPO:0000767) Pectus excavatum 244 / 7739
46
 (HPO:0001840) Metatarsus adductus 49 / 7739
47
 (HPO:0003992) Slender ulna 1 / 7739
48
 (HPO:0000768) Pectus carinatum 136 / 7739
49
 (HPO:0004279) Short palm 323 / 7739
50
 (HPO:0001762) Talipes equinovarus 309 / 7739
51
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
52
 (HPO:0011968) Feeding difficulties 240 / 7739
53
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
54
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
55
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
56
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
57
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
58
 (HPO:0001638) Cardiomyopathy 192 / 7739
59
 (HPO:0001635) Congestive heart failure 232 / 7739
60
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
61
 (HPO:0002779) Tracheomalacia 26 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (OMIM) Thin limbs 3 / 7739
64
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
65
 (OMIM) Slender radii 1 / 7739
66
 (OMIM) Weight less than 5th percentile 2 / 7739
67
 (OMIM) Mild maxillary hypoplasia 2 / 7739
68
 (OMIM) Finger joint laxity 2 / 7739
69
 (OMIM) Height less than 5th percentile 1 / 7739
70
 (OMIM) Pouty lower lip 1 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Martsolf et al. (1978) described a family in which 2 brothers had severe mental retardation, cataracts, short stature, primary hypogonadism, and minor digital and cephalic abnormalities. The parents were first cousins of Polish-Jewish descent and had 1 normal ...
Molecular genetics OMIM In a consanguineous Pakistani family with microphthalmia, congenital cataracts, hypogonadism, and mild mental retardation, Aligianis et al. (2006) identified a homozygous missense mutation in the noncatalytic subunit of RAB3GAP (RAB3GAP2) that resulted in abnormal splicing (609725.0001). Mutations in ...