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Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Ulnar-mammary syndrome
1 OMIM reference -
1 associated gene
38 signs/symptoms
Isolated anophthalmia - microphthalmia
Ulnar-mammary syndrome

ALDH1A3
(UniProt - OMIM)
 TBX3
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PRSS56
(UniProt - OMIM)
RAX
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
(0.63)
TBX3


Citations in the biomedical literature:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
Ulnar-mammary syndrome
TBX3



Isolated anophthalmia - microphthalmia
Ulnar-mammary syndrome

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Synonym(s):
- Schinzel syndrome
- UMS
- Ulnar-mammary syndrome of Pallister
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536937
Ulnar-mammary syndrome

Very frequent
- Autosomal dominant inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Oligodactyly / ectrodactyly of fingers
- Thin / hypoplastic / hyperconvex fingernails
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Generalized obesity
- Hypoplastic / absent nipples
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Short stature / dwarfism / nanism
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Wrist / carpal anomalies

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent pectoral muscles
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Anus ectopia / anteposition / malposition
- Breast tissue / mammary gland absence / aplasia
- Camptodactyly of some fingers
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Clavicle absent / abnormal
- Gastric / pyloric stenosis
- Hand agenesis / absence
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Laryngomalacia
- Metacarpal anomalies / Archibald's sign
- Pectus carinatum
- Postaxial polydactyly (hand)
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin / hypoplastic toenails
- Ventricular septal defect / interventricular communication


Isolated anophthalmia - microphthalmia

(no data available)