MCID: FLT006
MIFTS: 45

Floating-Harbor Syndrome

Categories: Genetic diseases, Rare diseases, Smell/Taste diseases, Bone diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Floating-Harbor Syndrome

MalaCards integrated aliases for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 53 72 23 49 24 55 71 28 13 69
Flhs 53 24 71
Pelletier-Leisti Syndrome 49 24
Fhs 49 24
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 49
Leisti-Hollander-Rimoin Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
facial dysmorphism is age-related and alters substantially over time


HPO:

31
floating-harbor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Floating-Harbor Syndrome

NIH Rare Diseases : 49 Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970's: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene. The mutation can be inherited from a parent or can occur for the first time in an affected individual. Communication issues and developmental disabilities may be helped with early intervention programs and special education. Last updated: 4/29/2016

MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to hyperaldosteronism, familial, type iii and hypercholesterolemia, familial, and has symptoms including constipation, joint stiffness and short neck. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and heart, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

OMIM : 53 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. (136140)

UniProtKB/Swiss-Prot : 71 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Genetics Home Reference : 24 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.

Wikipedia : 72 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50... more...

GeneReviews: NBK114458

Related Diseases for Floating-Harbor Syndrome

Diseases related to Floating-Harbor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type iii 11.8
2 hypercholesterolemia, familial 11.5
3 hereditary leiomyomatosis and renal cell cancer 11.4
4 hyperaldosteronism, familial, type ii 11.3
5 rubinstein-taybi syndrome 1 11.3
6 fumarase deficiency 11.2
7 renal cell carcinoma, papillary, 1 11.2
8 familial hyperaldosteronism 11.2
9 hyperaldosteronism, familial, type i 11.2
10 hyperaldosteronism, familial, type iv 11.0
11 hypercholesterolemia, autosomal dominant, 3 10.4
12 leiomyomatosis 10.3
13 renal cell carcinoma, nonpapillary 10.2
14 leiomyoma 10.2
15 leiomyoma, uterine 10.1
16 growth hormone deficiency 10.0
17 aneurysm 10.0
18 pheochromocytoma 10.0
19 homozygous familial hypercholesterolemia 10.0
20 paraganglioma 10.0
21 fumarate hydratase deficiency 10.0
22 ankyloglossia 9.9
23 celiac disease 1 9.9
24 moyamoya disease 1 9.9
25 microcephaly 9.9
26 intracranial aneurysm 9.9
27 cerebritis 9.9
28 ganglioglioma 9.9
29 precocious puberty 9.9
30 cerebral aneurysms 9.9
31 prostate cancer 9.9
32 hypercholesterolemia, autosomal recessive 9.9
33 prostatitis 9.9
34 blood group, i system 9.7
35 multiple mitochondrial dysfunctions syndrome 5 9.7
36 charcot-marie-tooth disease 9.7
37 follicular lymphoma 9.7
38 lymphoma 9.7
39 hypogonadotropic hypogonadism 9.7
40 tooth disease 9.7
41 leiomyosarcoma 9.7
42 smooth muscle tumor 9.7
43 hereditary paraganglioma-pheochromocytoma syndromes 9.7
44 cutis verticis gyrata 9.7
45 fetal hydantoin syndrome 9.7
46 endotheliitis 9.7
47 chromosome 16p13.3 deletion syndrome, proximal 9.4 CREBBP SRCAP

Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to Floating-Harbor Syndrome

Symptoms & Phenotypes for Floating-Harbor Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
joint laxity

Head And Neck Nose:
smooth philtrum
prominent nose
wide columella

Head And Neck Eyes:
long eyelashes
deep-set eyes (in early childhood)
hyperopia (in some patients)
strabismus (rare)

Head And Neck Face:
triangular face

Head And Neck Ears:
posteriorly rotated ears
hearing loss, conductive (in some patients)
otitis media, recurrent (rare)

Skeletal:
delayed bone age

Growth Height:
short stature (-4 to -6 s.d. below mean)

Cardiovascular Heart:
atrial septal defect (rare)
mesocardia (rare)

Abdomen External Features:
umbilical hernia (rare)

Genitourinary Internal Genitalia Male:
inguinal hernia (in some patients)
cryptorchidism (in some patients)
epididymal cysts, bilateral (rare)
varicocele (rare)

Genitourinary Bladder:
posterior urethral valves (rare)

Head And Neck Neck:
short neck
low posterior hairline

Abdomen Gastroin testinal:
celiac disease

Skin Nails Hair Hair:
long eyelashes
hirsutism

Neurologic Central Nervous System:
expressive language delay
normal motor development
intellectual impairment, mild (in some patients)

Skeletal Hands:
fifth finger clinodactyly
cone-shaped epiphyses

Head And Neck Mouth:
thin lips
broad mouth
downturned mouth

Growth Other:
prenatal onset of short stature

Cardiovascular Vascular:
aortic coarctation (rare)
persistent left superior vena cava (rare)

Genitourinary External Genitalia Male:
hypospadias (rare)

Genitourinary Kidneys:
hydronephrosis (rare)
nephrocalcinosis (rare)
unilateral renal pelviectasis (rare)

Laboratory Abnormalities:
normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)


Clinical features from OMIM:

136140

Human phenotypes related to Floating-Harbor Syndrome:

55 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
5 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
8 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
10 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 broad thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0011304
12 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
13 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
14 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
15 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
16 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
17 recurrent otitis media 55 31 occasional (7.5%) Frequent (79-30%) HP:0000403
18 abnormality of the fingernails 55 31 occasional (7.5%) Occasional (29-5%) HP:0001231
19 underdeveloped nasal alae 55 31 frequent (33%) Frequent (79-30%) HP:0000430
20 telecanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000506
21 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
22 short philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000322
23 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
24 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
25 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
26 bulbous nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000414
27 nasal speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001611
28 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
29 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
30 long eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000527
31 triangular face 55 31 frequent (33%) Frequent (79-30%) HP:0000325
32 high pitched voice 55 31 hallmark (90%) Very frequent (99-80%) HP:0001620
33 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
34 trigonocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000243
35 prominent nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000448
36 short clavicles 55 31 frequent (33%) Frequent (79-30%) HP:0000894
37 abnormality of the soft palate 55 31 frequent (33%) Frequent (79-30%) HP:0100736
38 congenital posterior urethral valve 55 31 occasional (7.5%) Occasional (29-5%) HP:0010957
39 broad columella 55 31 hallmark (90%) Very frequent (99-80%) HP:0010761
40 expressive language delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0002474
41 posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000358
42 enlarged joints 55 31 frequent (33%) Frequent (79-30%) HP:0003037
43 congenital pseudoarthrosis of the clavicle 55 31 frequent (33%) Frequent (79-30%) HP:0006585
44 generalized cerebral atrophy/hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007058
45 joint laxity 31 HP:0001388
46 inguinal hernia 31 occasional (7.5%) HP:0000023
47 umbilical hernia 31 occasional (7.5%) HP:0001537
48 smooth philtrum 31 HP:0000319
49 cognitive impairment 31 occasional (7.5%) HP:0100543
50 malformation of the heart and great vessels 55 Occasional (29-5%)

GenomeRNAi Phenotypes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 CREBBP SRCAP

Drugs & Therapeutics for Floating-Harbor Syndrome

Search Clinical Trials , NIH Clinical Center for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

Genetic tests related to Floating-Harbor Syndrome:

# Genetic test Affiliating Genes
1 Floating-Harbor Syndrome 28 SRCAP

Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

38
Bone, Eye, Heart, Thyroid, Kidney, Spinal Cord

Publications for Floating-Harbor Syndrome

Articles related to Floating-Harbor Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Perthes disease: A new finding in Floating-Harbor syndrome. ( 29383823 )
2018
2
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. ( 28549641 )
2017
3
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )
2017
4
Chiari I malformation as part of the Floating-Harbor syndrome? ( 27815143 )
2016
5
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. ( 27208210 )
2016
6
Floating Harbor Syndrome. ( 27206688 )
2016
7
The defining DNA methylation signature of Floating-Harbor Syndrome. ( 27934915 )
2016
8
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. ( 25433523 )
2014
9
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. ( 23763483 )
2013
10
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. ( 22965468 )
2013
11
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. ( 24375913 )
2013
12
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. ( 23621943 )
2013
13
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. ( 22265015 )
2012
14
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. ( 21955542 )
2012
15
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. ( 22263687 )
2012
16
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. ( 22570979 )
2012
17
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. ( 23165645 )
2012
18
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. ( 22247066 )
2012
19
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. ( 22001135 )
2011
20
Floating-Harbor syndrome associated with middle ear abnormalities. ( 20014123 )
2010
21
The phenotype of Floating-Harbor syndrome in 10 patients. ( 20358590 )
2010
22
Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues. ( 20358589 )
2010
23
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. ( 20185146 )
2010
24
Ocular abnormalities in Floating-Harbor syndrome. ( 19393524 )
2009
25
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. ( 19764022 )
2009
26
Floating-Harbor syndrome: case report. ( 18449141 )
2008
27
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. ( 18978661 )
2008
28
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. ( 17955782 )
2007
29
Precocious puberty in a girl with floating-harbor syndrome. ( 18341094 )
2007
30
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. ( 16523514 )
2006
31
Floating-Harbor syndrome: a first female Turkish patient? ( 17375535 )
2006
32
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. ( 15889416 )
2005
33
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. ( 15378536 )
2004
34
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. ( 15119008 )
2004
35
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. ( 15139957 )
2004
36
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? ( 14738118 )
2003
37
A variant example of familial Floating-Harbor syndrome? ( 12725587 )
2003
38
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. ( 11883867 )
2002
39
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. ( 11746027 )
2001
40
[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. ( 11995206 )
2000
41
Changing phenotype in Floating-Harbor syndrome. ( 9508066 )
1998
42
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. ( 9892052 )
1998
43
Floating Harbor syndrome. Case report and further syndrome delineation. ( 9401100 )
1997
44
The floating harbor syndrome with cardiac septal defect. ( 8985491 )
1996
45
The Floating-Harbor syndrome: two affected siblings in a family. ( 9001802 )
1996
46
Two more diagnostic signs in the Floating-Harbor syndrome. ( 8867666 )
1996
47
Floating-Harbor syndrome. A neuropsychological approach. ( 8985732 )
1996
48
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. ( 8831134 )
1996
49
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. ( 7588969 )
1995
50
Further observations on the Floating-Harbor syndrome. ( 8055134 )
1994

Variations for Floating-Harbor Syndrome

ClinVar genetic disease variations for Floating-Harbor Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRCAP NM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter) single nucleotide variant Pathogenic rs199469464 GRCh37 Chromosome 16, 30748691: 30748691
2 SRCAP NM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter) single nucleotide variant Pathogenic rs199469465 GRCh37 Chromosome 16, 30748664: 30748664
3 SRCAP NM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs) deletion Pathogenic rs199469466 GRCh38 Chromosome 16, 30737589: 30737589
4 SRCAP NM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs) duplication Pathogenic rs587776938 GRCh38 Chromosome 16, 30737903: 30737903
5 SRCAP NM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter) single nucleotide variant Pathogenic rs587777656 GRCh38 Chromosome 16, 30736616: 30736616
6 SRCAP NM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter) single nucleotide variant Pathogenic rs587784444 GRCh37 Chromosome 16, 30749354: 30749354

Expression for Floating-Harbor Syndrome

Search GEO for disease gene expression data for Floating-Harbor Syndrome.

Pathways for Floating-Harbor Syndrome

Pathways related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 CREBBP SRCAP

GO Terms for Floating-Harbor Syndrome

Cellular components related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 CREBBP SRCAP

Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 CREBBP SRCAP
2 histone acetylation GO:0016573 8.62 CREBBP SRCAP

Molecular functions related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.96 CREBBP SRCAP
2 histone acetyltransferase activity GO:0004402 8.62 CREBBP SRCAP

Sources for Floating-Harbor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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