raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:357074

Autosomal recessive cutis laxa type 2, classic type

Synonyms: ARCL2, Debré type · ARCL2, classic type · Autosomal recessive cutis laxa type 2, Debré type

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal recessive cutis laxa type 2, classic typeARCL2, Debré type · ARCL2, classic type · Autosomal recessive cutis laxa type 2, Debré type
frCutis laxa autosomique récessive type 2 classiqueARCL2 type classique · ARCL2B type Debré · Cutis laxa autosomique récessive type 2 Debré
deCutis laxa, autosomal-rezessive, Typ 2, klassischeARCL2 Typ Debré · ARCL2, klassischer Typ · Cutis laxa, autosomal-rezessive, Typ 2, Debré
esCutis laxa autosómica recesiva tipo 2, tipo clásicoARCL2 tipo Debré · ARCL2 tipo clásico · Cutis laxa autosómica recesiva tipo 2, tipo Debré
itCutis laxa autosomica recessiva tipo 2, tipo classicoARCL2, tipo Debré · ARCL2, tipo classico · Cutis laxa autosomica recessiva tipo 2, tipo Debré
nlAutosomaal recessieve cutis laxa type 2, klassiek typeARCL2, Debré-type · ARCL2, klassiek type · Autosomaal recessieve cutis laxa type 2, Debré-type
ptCutis laxa autossómica recessiva tipo 2, clássica
plAutosomalna recesywna luźna skóra typu 2, typ klasycznyARCL2, typ Debré · ARCL2, typ klasyczny · Autosomalna recesywna luźna skóra typu 2, typ Debré
csAutozomálně recesivní cutis laxa typ 2, klasický typARCL2, Debrého typ · ARCL2, klasický typ · Debrého syndrom · Autozomálně recesivní cutis laxa typ 2, Debrého typ
ukАутосомно-рецесивний тип cutis laxa, тип 2, класичний типARCL2, класичний тип · ARCL2, тип Дебре · Аутосомно-рецесивний синдром cutis laxa типу 2, тип Дебре
zh常染色体隐性皮肤松弛2型，经典型常染色体隐性遗传性皮肤松弛症2型Debré型
trOtozomal resesif kutis laksa tip 2, klasik tipARCL2, Debré tipi · ARCL2, klasik tipi · Otozomal çekinik kutis laksa tip 2, Debré tipi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM219200BTNTvalidated
OMIM617402BTNTvalidated
OMIM617403BTNTvalidated
ICD-10Q82.8NTBTattributedvalidated
ICD-11LD28.2NTBTattributedvalidated
MONDO0009054Evalidated
UMLSC5679922Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:357058Autosomal recessive cutis laxa type 2A
    rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases; rare bone diseases

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ATP6V0A2Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:18481ENSG0000018534461171612q24.31ATPase H+ transporting V0 subunit a220301755[PMID]_19321599[PMID]_18157129[PMID]
ATP6V1ADisease-causing germline mutation(s) inAssessedHGNC:851ENSG000001145736070273q13.31ATPase H+ transporting V1 subunit A28065471[PMID]
ATP6V1E1Disease-causing germline mutation(s) inAssessedHGNC:857ENSG0000013110010874622q11.21ATPase H+ transporting V1 subunit E128065471[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

57 annotations · validated 2017-09-18
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0001476Delayed closure of the anterior fontanelle
Very frequent (99-80%)
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0000463Anteverted nares
HP:0000455Broad nasal tip
HP:0000670Carious teeth
HP:0002208Coarse hair
HP:0000973Cutis laxa
HP:0003199Decreased muscle mass
HP:0000750Delayed speech and language development
HP:0000726Dementia
HP:0000494Downslanted palpebral fissures
HP:0007392Excessive wrinkled skin
HP:0001508Failure to thrive
HP:0011968Feeding difficulties
HP:0008947Floppy infant
HP:0025167Fragmented elastic fibers in the dermis
HP:0002761Generalized joint hypermobility
HP:0001263Global developmental delay
HP:0011003High myopia
HP:0000218High palate
HP:0000316Hypertelorism
HP:0002187Intellectual disability, profound
HP:0001511Intrauterine growth retardation
HP:0009125Lipodystrophy
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000272Malar flattening
HP:0001270Motor delay
HP:0002465Poor speech
HP:0008897Postnatal growth retardation
HP:0000253Progressive microcephaly
HP:0005272Prominent nasolabial fold
HP:0007457Prominent veins on trunk
HP:0002361Psychomotor deterioration
HP:0005989Redundant neck skin
HP:0001582Redundant skin
HP:0003196Short nose
HP:0004322Short stature
HP:0000319Smooth philtrum
HP:0008070Sparse hair
HP:0006891Thick cerebral cortex
HP:0100874Thick hair
Frequent (79-30%)
HP:0025201Abnormal circulating apolipoprotein concentration
HP:0001321Cerebellar hypoplasia
HP:0001374Congenital hip dislocation
HP:0001305Dandy-Walker malformation
HP:0000023Inguinal hernia
HP:0001339Lissencephaly
HP:0001302Pachygyria
HP:0002126Polymicrogyria
HP:0001250Seizure
HP:0001257Spasticity
HP:0000486Strabismus
HP:0025244Subretinal pigment epithelium hemorrhage
Occasional (29-5%)
HP:0010989Abnormality of the intrinsic pathway
Excluded (0%)
HP:0002097Emphysema

Run the differential on the 12 obligate / very frequent terms

Annotation source: 18157129[PMID]_15657616[PMID]_5579863[PMID]_18716235[PMID]_19321599[PMID]_24478233[PMID]_19401719[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]

7

Sources for this card