Human Phenotype Ontology 
Grandparent Node:
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Regional abnormality of skin (HP:0011356)help
Parent Node:
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Abnormal fingertip morphology (HP:0001211)help
Parent Node:
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Prominent digit pad (HP:0011298)help
..Starting node
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Prominent fingertip pads (HP:0001212)help
Term ID: 1212
Name: Prominent fingertip pads
Synonym: Persistence of fingerpads; Persistent fetal fingertip pads; Persistent foetal fingertip pads; Prominent finger pads; Prominent fingertip pads
Definition: A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Comments:
Reference: HP:0001212
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001212HP:0001212Prominent fingertip pads0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001212HP:0001212Prominent fingertip pads0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001212HP:0001212Prominent fingertip pads0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001212HP:0001212Prominent fingertip pads0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001212HP:0001212Prominent fingertip pads0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0001212HP:0001212Prominent fingertip pads0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0001212HP:0001212Prominent fingertip pads0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0001212HP:0001212Prominent fingertip pads0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001212HP:0001212Prominent fingertip pads0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0001212HP:0001212Prominent fingertip pads0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001212HP:0001212Prominent fingertip pads0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0001212HP:0001212Prominent fingertip pads0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001212HP:0001212Prominent fingertip pads0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001212HP:0001212Prominent fingertip pads0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001212HP:0001212Prominent fingertip pads0H4C5 CL E G H83674790OMIM:619950
HP:0001212HP:0001212Prominent fingertip pads0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001212HP:0001212Prominent fingertip pads0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001212HP:0001212Prominent fingertip pads0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0001212HP:0001212Prominent fingertip pads0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001212HP:0001212Prominent fingertip pads0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001212HP:0001212Prominent fingertip pads0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001212HP:0001212Prominent fingertip pads0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001212HP:0001212Prominent fingertip pads0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0001212HP:0001212Prominent fingertip pads0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001212HP:0001212Prominent fingertip pads0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001212HP:0001212Prominent fingertip pads0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001212HP:0001212Prominent fingertip pads0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001212HP:0001212Prominent fingertip pads0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0001212HP:0001212Prominent fingertip pads0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0001212HP:0001212Prominent fingertip pads0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001212HP:0001212Prominent fingertip pads0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001212HP:0001212Prominent fingertip pads0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001212HP:0001212Prominent fingertip pads0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0001212HP:0001212Prominent fingertip pads0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0001212HP:0001212Prominent fingertip pads0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0001212HP:0001212Prominent fingertip pads0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0001212HP:0001212Prominent fingertip pads0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0001212HP:0001212Prominent fingertip pads0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0001212HP:0001212Prominent fingertip pads0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0001212HP:0001212Prominent fingertip pads0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68


Genes (34) :ARID1B ATN1 BCOR CREBBP CTCF EMC1 EP300 EZH2 FOXP1 GJA5 GJA8 H3-3B H4C5 HNRNPH2 KANSL1 KDM6A KMT2D KPTN MAP1B MED12 MED12L NAA10 NFIX NR2F1 PAK3 PKDCC PRR12 RPS23 RUSC2 TBL1XR1 TCF4 WAC ZNF292 ZNF407

Diseases (36) :OMIM:135900 OMIM:618494 OMIM:309800 OMIM:180849 ORPHA:363611 OMIM:616875 ORPHA:480898 OMIM:613684 OMIM:277590 ORPHA:391372 OMIM:612474 OMIM:619721 OMIM:619950 OMIM:300986 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:147920 OMIM:300867 OMIM:615637 OMIM:618918 OMIM:305450 OMIM:618872 OMIM:602535 OMIM:615722 OMIM:300558 OMIM:618821 OMIM:619539 OMIM:617412 OMIM:617773 OMIM:602342 ORPHA:487825 OMIM:610954 ORPHA:466950 OMIM:619188 OMIM:619557
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.