MCID: LGB002
MIFTS: 15

Leg, Absence Deformity of, with Congenital Cataract

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Leg, Absence Deformity of, with Congenital Cataract

MalaCards integrated aliases for Leg, Absence Deformity of, with Congenital Cataract:

Name: Leg, Absence Deformity of, with Congenital Cataract 56
Absence Deformity of Leg-Cataract Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
absence deformity of leg-cataract syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
leg, absence deformity of, with congenital cataract:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Leg, Absence Deformity of, with Congenital Cataract

MalaCards based summary : Leg, Absence Deformity of, with Congenital Cataract, is also known as absence deformity of leg-cataract syndrome. Affiliated tissues include bone and eye, and related phenotypes are cataract and scoliosis

More information from OMIM: 246000

Related Diseases for Leg, Absence Deformity of, with Congenital Cataract

Diseases in the Leg Absence Deformity Cataract family:

Leg, Absence Deformity of, with Congenital Cataract

Symptoms & Phenotypes for Leg, Absence Deformity of, with Congenital Cataract

Human phenotypes related to Leg, Absence Deformity of, with Congenital Cataract:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
5 abnormality of femur morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002823
6 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
7 lower limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009816
8 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
9 cranial nerve paralysis 31 HP:0006824
10 abnormality of the lower limb 58 Very frequent (99-80%)
11 developmental cataract 31 HP:0000519
12 optic nerve dysplasia 31 HP:0001093
13 spondyloepiphyseal dysplasia 31 HP:0002655
14 progressive cataract 31 HP:0007834
15 duplication involving bones of the feet 31 HP:0009136

Symptoms via clinical synopsis from OMIM:

56
Eyes:
congenital cataract

Spine:
progressive scoliosis

Limbs:
absent leg

Clinical features from OMIM:

246000

Drugs & Therapeutics for Leg, Absence Deformity of, with Congenital Cataract

Search Clinical Trials , NIH Clinical Center for Leg, Absence Deformity of, with Congenital Cataract

Genetic Tests for Leg, Absence Deformity of, with Congenital Cataract

Anatomical Context for Leg, Absence Deformity of, with Congenital Cataract

MalaCards organs/tissues related to Leg, Absence Deformity of, with Congenital Cataract:

40
Bone, Eye

Publications for Leg, Absence Deformity of, with Congenital Cataract

Articles related to Leg, Absence Deformity of, with Congenital Cataract:

# Title Authors PMID Year
1
Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts. 56
5694533 1968

Variations for Leg, Absence Deformity of, with Congenital Cataract

Expression for Leg, Absence Deformity of, with Congenital Cataract

Search GEO for disease gene expression data for Leg, Absence Deformity of, with Congenital Cataract.

Pathways for Leg, Absence Deformity of, with Congenital Cataract

GO Terms for Leg, Absence Deformity of, with Congenital Cataract

Sources for Leg, Absence Deformity of, with Congenital Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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