ODCs

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Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

PROTEIN INTERACTIONS: 1

Constitutional mismatch repair deficiency syndrome

1 OMIM reference -
4 associated genes
No signs/symptoms info

Lethal restrictive dermopathy

Constitutional mismatch repair deficiency syndrome

LMNA	(UniProt - OMIM)	MLH1	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)	MSH2	(UniProt - OMIM)
		MSH6	(UniProt - OMIM)
		PMS2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	PMS2

Citations in the biomedical literature:

Lethal restrictive dermopathy		Constitutional mismatch repair deficiency syndrome
	Synonym(s): (no synonyms)		Synonym(s): - CMMR-D syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Lethal restrictive dermopathy
	Very frequent - Absent / decreased lashes - Anomalies of teeth and dentition - Autosomal recessive inheritance - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Mouth held open - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Short / small nose - Stillbirth / neonatal death - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Frequent - Adrenal glands anomalies - Anomalies of chest / thorax / trunk - Anomalies of eyelids, eyelashes and lacrimal system - Atrial septal defect / interauricular communication - Bladder and ureter anomalies - Blepharophimosis / short palpebral fissures - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete claw hand / camptodactyly of all fingers - Diaphyseal anomaly - Eyebrows anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypospadias / epispadias / bent penis - Kyphosis - Lanugo - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Patent ductus arteriosus - Polyhydramnios - Scoliosis Occasional - Aortic root dilatation / dilation / aneurysm - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
Constitutional mismatch repair deficiency syndrome
(no data available)