Cafe-au-lait spot

Symptom Information:

Symptom ID: HPO:0000957
Synonyms:
Cafe au lait spots [HPO:0000957]
Cafe-au-lait macules [HPO:0000957]
CAFE-AU-LAIT SPOTS [HPO:0000957]
Caf� au lait spot (disorder) [Orphanet:23570]
Cafe-au-Lait Spots [Orphanet:23570]
Cafe au lait spots [OMIM:Cafe au lait spots]
Cafe-au-lait macules [OMIM:Cafe-au-lait macules]
Cafe-au-lait spots [OMIM:Cafe-au-lait spots]
Cafe-au-lait spot [Orphanet:23570]
Cafe au lait spots [Orphanet:23570]
Cafe au lait spots [MedDRA:10006926]
Cafe au lait spots (in some patients) [OMIM:Cafe au lait spots (in some patients)]
Cafe-au-lait spot (in 1/4 patients) [OMIM:Cafe-au-lait spot (in 1/4 patients)]
Cafe-au-lait spots (93%) [OMIM:Cafe-au-lait spots (93%)]
Quality:
Cross references:
HPO:0007429 "Few cafe-au-lait spots" [Orphanet:23570]
HPO:0007565 "Multiple cafe-au-lait spots" [Orphanet:23570]
Orphanet:23570 "Cafe-au-lait spot" [Orphanet:23570]
OMIM: "Cafe au lait spots" [OMIM:Cafe au lait spots]
OMIM: "Cafe-au-lait macules" [OMIM:Cafe-au-lait macules]
OMIM: "Cafe-au-lait spots" [OMIM:Cafe-au-lait spots]
OMIM: "Cafe au lait spots (in some patients)" [OMIM:Cafe au lait spots (in some patients)]
OMIM: "Cafe-au-lait spot (in 1/4 patients)" [OMIM:Cafe-au-lait spot (in 1/4 patients)]
OMIM: "Cafe-au-lait spots (93%)" [OMIM:Cafe-au-lait spots (93%)]
UMLS:C0221263 "Cafe-au-Lait Spots" [Orphanet:23570]
Is a (Direct Parents):
HPO         Hypermelanotic macule
MedDRA Hyperpigmentation disorders
Orphanet Abnormality of skin pigmentation
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Localized skin lesion(HPO:0011355)
                Hypermelanotic macule(HPO:0001034)
                   Cafe-au-lait spot(HPO:0000957)
             Generalized abnormality of skin(HPO:0011354)
                Abnormality of skin morphology(HPO:0011121)
                   Abnormality of skin pigmentation(HPO:0001000)
                      Hyperpigmentation of the skin(HPO:0000953)
                         Irregular hyperpigmentation(HPO:0007400)
                            Hypermelanotic macule(HPO:0001034)
                               Cafe-au-lait spot(HPO:0000957)
MedDRA:
Skin and subcutaneous tissue disorders(MedDRA:10040785)
    Pigmentation disorders(MedDRA:10035023)
       Hyperpigmentation disorders(MedDRA:10020713)
          Cafe-au-lait spot(HPO:0000957)
Database Frequency: 84 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
3C syndrome (Orphanet:7)
ATAXIA-TELANGIECTASIA (OMIM:208900)
Acro-oto-ocular syndrome (Orphanet:2980)
Albright hereditary osteodystrophy (Orphanet:665)
Ataxia-telangiectasia (Orphanet:100)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Bloom syndrome (Orphanet:125)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carney complex (Orphanet:1359)
Constitutional mismatch repair deficiency syndrome (Orphanet:252202)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Dyschromatosis universalis (Orphanet:241)
Epidermodysplasia verruciformis (Orphanet:302)
FACES syndrome (Orphanet:1969)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Facial ectodermal dysplasia (Orphanet:1807)
Familial progressive hyperpigmentation (Orphanet:79146)
Fanconi anemia (Orphanet:84)
Gastrocutaneous syndrome (Orphanet:2069)
Hidrotic ectodermal dysplasia, Halal type (Orphanet:1809)
Hyperkeratosis-hyperpigmentation syndrome (Orphanet:1336)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Johanson-Blizzard syndrome (Orphanet:2315)
Juvenile xanthogranuloma (Orphanet:158000)
KABUKI SYNDROME 1 (OMIM:147920)
Kabuki syndrome (Orphanet:2322)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 2 (OMIM:611554)
Legius syndrome (Orphanet:137605)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
McCune-Albright syndrome (Orphanet:562)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Moebius syndrome (Orphanet:570)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Multiple endocrine neoplasia type 1 (Orphanet:652)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple non-ossifying fibromatosis (Orphanet:2029)
NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Neurofibromatosis type 2 (Orphanet:637)
Neurofibromatosis type 6 (Orphanet:2678)
Nijmegen breakage syndrome (Orphanet:647)
Non-polyposis Turcot syndrome (Orphanet:99817)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME (OMIM:171420)
PHEOCHROMOCYTOMAPHEOCHROMOCYTOMA, SUSCEPTIBILITY TO (OMIM:171300)
Peeling skin syndrome (Orphanet:817)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Proteus syndrome (Orphanet:744)
RAPADILINO syndrome (Orphanet:3021)
RUSSELL-SILVER SYNDROME, X-LINKED (OMIM:312780)
Roberts syndrome (Orphanet:3103)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SILVER-RUSSELL SYNDROME (OMIM:180860)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet:300298)
Silver-Russell syndrome (Orphanet:813)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TUBEROUS SCLEROSIS 1 (OMIM:191100)
TUBEROUS SCLEROSIS 2 (OMIM:613254)
Teebi-Shaltout syndrome (Orphanet:3291)
Trichodermodysplasia - dental alterations (Orphanet:3353)
Tuberous sclerosis (Orphanet:805)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)