Gene Summary

Name:
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms:
ru,  BLOC-2,  5330434M19Rik,  ruby eye,  Hermansky-Pudlak syndrome 6

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
small spleen Hps6em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
small thymus Hps6em1(IMPC)Tcp HOM Early adult 0.00
mydriasis Hps6em1(IMPC)Tcp HOM Early adult 7.76×10-11
hyperactivity Hps6em1(IMPC)Tcp HOM   Early adult 4.10×10-05
abnormal eye morphology Hps6em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Hps6em1(IMPC)Tcp HOM Early adult 1.24×10-06
abnormal coat/hair pigmentation Hps6em1(IMPC)Tcp HOM Early adult 4.85×10-18

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

139 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

9 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Hps6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hps6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 6
Albinism, Hypopigmentation of the skin, Ocular albinism OMIM:614075

The table below shows human diseases predicted to be associated to Hps6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Book Syndrome
Premature graying of hair OMIM:112300
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hearing impairment, Multiple cafe-au-lait spots, Freckling, Hypermela... ORPHA:241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, A... OMIM:617294
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, White eyelashes, Bilateral sensorineural hearing impairment, Congenit... OMIM:103500
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Congenital sensorineural hearing ... OMIM:300700
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Hearing impairment OMIM:172850
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Sensorineural hearing impairment, Partial albin... ORPHA:998
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Hyperlysinemia, Type I
Anemia, Hyperactivity, Ectopia lentis OMIM:238700
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity, Hirsutism, Congenital bilateral hip dislocation ORPHA:85288
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Flared metaphysis, Anemia, Hypochromic mi... OMIM:259720
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Hypoplasia of the iris, Persistent pupillary membrane, Cataract, I... OMIM:617319
Pituitary Apoplexy
Central diabetes insipidus, Hypopituitarism, Elevated circulating growth hormone concentration, I... ORPHA:95613
Alazami-Yuan Syndrome
Long eyelashes, Cryptorchidism, Thick eyebrow, Hyperactivity, Broad hallux, Highly arched eyebrow... OMIM:617126
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Insulin-Like Growth Factor I Deficiency
Clinodactyly, Hyperactivity, Radial deviation of finger OMIM:608747
Intestinal Botulism
Mydriasis ORPHA:178481
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Inhalational Botulism
Mydriasis ORPHA:254504
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cryptorchidism, Cone-shaped epiphysis, Short phalanx ... OMIM:614613
Botulism
Mydriasis ORPHA:1267
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Foodborne Botulism
Mydriasis ORPHA:228371
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hirsutism, Short foot, Hip dislocation OMIM:300434
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White forelock, Blue... OMIM:148820
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Phenylketonuria
Fair hair, Hyperactivity, Cataract, Blue irides, Generalized hypopigmentation, Attention deficit ... OMIM:261600
Serotonin Syndrome
Mydriasis ORPHA:43116
Craniotubular Dysplasia, Ikegawa Type
Short palm, Broad femoral neck, Broad ischia, Mydriasis, Metaphyseal dysplasia, 3-4 finger syndac... OMIM:619727
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Arachnoid Cyst
Mydriasis ORPHA:2356
Hermansky-Pudlak Syndrome 11
Fair hair, Albinism, Iris transillumination defect, Ocular albinism, Melanocytic nevus OMIM:619172
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
X-Linked Recessive Ocular Albinism
Astigmatism, Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Freckl... ORPHA:54
Gracile Bone Dysplasia
Brachydactyly, Hypoplastic spleen, Thin ribs, Flared metaphysis, Aniridia, Asplenia, Slender long... OMIM:602361
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Bowing of the legs, Brachydactyly, Bowing of the long bones, Metaphyseal irregularit... ORPHA:85167
Short Syndrome
Brachydactyly, Abnormal anterior chamber morphology, Short palm, Hypoplasia of the iris, Posterio... ORPHA:3163
Coffin-Siris Syndrome 8
Thick eyebrow, Hyperactivity, Sparse scalp hair, Long eyelashes OMIM:618362
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines ORPHA:101003
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Splenomegaly, Abnormality of the parathyroid ... ORPHA:2969
Alternating Hemiplegia Of Childhood
Thin eyebrow, Mydriasis ORPHA:2131
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Senso... OMIM:611584
Griscelli Syndrome
Premature graying of hair, Leukopenia, Hypopigmented skin patches, Bone marrow hypocellularity, A... ORPHA:381
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity OMIM:300928
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hyperactivity, Splenomegaly, Hepatomegaly, Synophrys, Hirsutism, Thickened ribs OMIM:252920
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Intellectual Developmental Disorder, Autosomal Recessive 61
Long eyelashes, Thick eyebrow, Hyperactivity, Tapered finger, Highly arched eyebrow, Synophrys OMIM:617773
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hyperactivity, Splenomegaly, Hepatomegaly, Synophrys, Hirsutism, Thickened ribs OMIM:252900
Morm Syndrome
Cataract, Hyperactivity ORPHA:75858
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Hyperactivity, Sparse eyebrow, Highly arched eyebrow OMIM:300979
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Rubinstein-Taybi Syndrome 2
Long eyelashes, Hyperactivity, Broad hallux, Broad thumb, Hirsutism, Syndactyly OMIM:613684
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Gand Syndrome
Long fingers, Hyperactivity, Sparse hair, Long toe OMIM:615074
Revesz Syndrome
Fine, reticulate skin pigmentation, Bone marrow hypocellularity, Fine hair, Nail pits, Nail dystr... OMIM:268130
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Mydriasis OMIM:619351
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Cocaine Intoxication
Mydriasis ORPHA:90068
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Scorpion Envenomation
Acute pancreatitis, Mydriasis, Miosis ORPHA:466677
Duane Retraction Syndrome
Brachydactyly, Central heterochromia, Chorioretinal coloboma, Hypopigmented skin patches, Absent ... ORPHA:233
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hyperactivity, Splenomegaly, Hepatomegaly, Synophrys, Hirsutism, Thickened ribs OMIM:252930
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Hyperopic astigmatism, Hyperactivity, Cone-shaped epiphyses... ORPHA:397973
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Trisomy 9P
Brachydactyly, Hypoplastic toenails, Clinodactyly of the 5th finger, Abnormal pupil morphology, F... ORPHA:236
Coffin-Siris Syndrome 7
Brachydactyly, Clinodactyly, Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Sparse scal... OMIM:618027
Chediak-Higashi Syndrome
Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Hypopigmentati... OMIM:214500
Mend Syndrome
2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Hyperactivity, Cataract, Polydactyly, Lo... OMIM:300960
Plague
Lymphadenitis, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node, Mydriasis, Conjunctiva... ORPHA:707
Cartilage-Hair Hypoplasia
Fair hair, Abnormality of pelvic girdle bone morphology, Macrocytic anemia, Short palm, Congenita... OMIM:250250
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Hallux valgus, Synophrys OMIM:615541
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Adducted thumb, Hypoplastic spleen ORPHA:89844
Alagille Syndrome
Hypoplasia of the ulna, Corneal dystrophy, Cholestasis, Cryptorchidism, Clinodactyly of the 5th f... ORPHA:52
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Mydriasis OMIM:613834
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Persistent pupillary membrane, 4-5 finger syndactyly, Microcornea, ... OMIM:257850
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Short palm, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Hy... ORPHA:228402
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Waardenburg Syndrome, Type 1
White eyebrow, Premature graying of hair, Heterochromia iridis, Thick eyebrow, White forelock, Bl... OMIM:193500
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Blue irides OMIM:615516
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Synophrys, Hyperactivity, Postaxial polydactyly OMIM:615824
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Astigmat... OMIM:618727
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Clinodactyly, Long eyelashes, Sandal gap, Hyperactivity, Tapered finger, Small hand, Short foot OMIM:618089
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Congenital hip dislocation, Decreased corneal thickness... OMIM:229200
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Astigmatism, Anonychia, Absent distal phalange... OMIM:186500
Bone Marrow Failure Syndrome 3
Small nail, Pancytopenia, Exocrine pancreatic insufficiency, Abnormality of skin pigmentation, Bo... OMIM:617052
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Short long bone, Hypoplastic aceta... ORPHA:239
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Triopia
Abnormal pupil morphology, Microcornea, Abnormal eyebrow morphology, Iris coloboma ORPHA:3374
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hypopigmentation of hai... ORPHA:3322
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Long fingers, Macrocytic anemia, Attention deficit hyperactivity d... OMIM:614294
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Vaginal hydrocele ORPHA:2119
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
16P12.1P12.3 Triplication Syndrome
Brachydactyly, 2-3 toe syndactyly, Thick eyebrow, Clinodactyly of the 4th finger, Tapered finger,... ORPHA:485405
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Short palm, Abn... ORPHA:96125
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Brittle Cornea Syndrome
Corneal dystrophy, Abnormality of epiphysis morphology, Keratoglobus, Corneal scarring, Decreased... ORPHA:90354
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Graves Disease, Susceptibility To, 1
Goiter, Hyperactivity, Onycholysis OMIM:275000
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Opacification of the corneal stroma, Corneal scarring, Hyperactivity, Nail dy... OMIM:256800
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Adult Syndrome
Fair hair, Absent nipple, Nail pits, Hypoplastic nipples, Freckling, Sparse axillary hair, Sparse... OMIM:103285
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Radial club hand, Overlapping fingers, Rocker bottom foot, Crypto... OMIM:617053
Prader-Willi Syndrome
Clinodactyly, Hypopigmentation of hair, Attention deficit hyperactivity disorder, Acromicria, Sho... OMIM:176270
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Charcot-Marie-Tooth Disease Type 1E
Tonic pupil, Hammertoe, Split hand, Abnormal pupil morphology, Slow pupillary light response, Ani... ORPHA:90658
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Ocular ... ORPHA:79430
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Synophrys OMIM:300143
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Abnormal thumb morphology, Cryptorchidism, Cataract, Corneal opacity, A... ORPHA:2719
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Hyperactivity, Synophrys, Premature ovarian insufficiency, Lymphopenia ORPHA:391307
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Clinodactyly of the 5th finger, Hyperactivity, Low anterior hairline, Cafe-au-lait ... ORPHA:73272
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Hyperopic astigmatism, Hyperactivity, Astigmatism, Fine hair, Broad distal phalanx of f... ORPHA:363686
Witteveen-Kolk Syndrome
Brachydactyly, Toe syndactyly, Abnormal thumb morphology, Clinodactyly, Short palm, Cryptorchidis... OMIM:613406
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Hermansky-Pudlak Syndrome 6
Albinism, Hypopigmentation of the skin, Ocular albinism OMIM:614075
Seckel Syndrome 1
Pancytopenia, Hypoplasia of proximal radius, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:210600
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Hepatoblastoma, Woolly hair, Abnormality of the liver, Ci... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Coarse hair, Thick eyebrow, Hyperactivity, Splenomegaly, Hepatomegaly, Synophrys,... OMIM:252940
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Fair hair, Pseudohypoparathyroidism, Short metacarpal, Cryptorchidism, Cone-shaped... ORPHA:280651
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Buphthalmos, Chorioretinal dysplasia, Abnormality of epiphysis morphology, Cryptorch... ORPHA:534
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Familial Dysautonomia
Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Abnormality of the peritoneum, ... ORPHA:1764
Ectopia Pupillae
Ectopia pupillae OMIM:129750
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Short palm, Sandal gap, Clinodactyly of the 5th finger, Abnormal hair pattern, Hy... ORPHA:85293
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Macronodular cirrhosis, Pigmentary retinopathy, ... ORPHA:699
Ch├ędiak-Higashi Syndrome
Pancytopenia, Hypopigmentation of hair, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocyto... ORPHA:167
Cutis Marmorata Telangiectatica Congenita
Bowing of the legs, Leukocoria, Short lower limbs OMIM:219250
Vici Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism OMIM:242840
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Ectopia pupillae, Low anterior hairline, Hypoparathyroidism, Decrease... OMIM:618223
Legius Syndrome
Axillary freckling, Clinodactyly of the 5th finger, Multiple cafe-au-lait spots, Hyperactivity, C... ORPHA:137605
Anisocoria
Anisocoria OMIM:106240
Wolf-Hirschhorn Syndrome
Accessory spleen, Cryptorchidism, Short thumb, Highly arched eyebrow, Hip dysplasia, Rib fusion, ... OMIM:194190
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Nephronophthisis 11
Anemia, Hepatic fibrosis, Anisocoria OMIM:613550
Facial Spasm
Anisocoria OMIM:134300
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Leukocoria, Small hand, Short foot ORPHA:2714
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Clinodactyly of the 5th finger, Hyperactivity, Hypoplastic nipples, Hypermelanoti... OMIM:618505
Prader-Willi Syndrome Due To Translocation
Brachydactyly, Clinodactyly, Hypopigmentation of hair, Anterior pituitary hypoplasia, Clinodactyl... ORPHA:177907
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Metaphyseal widening, Genu valgum, Hip dislocation, Brachydactyly... ORPHA:93357
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides, Hyperactivity OMIM:105830
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Short palm, Cryptorchidism, Hyperactivity, Hypoplastic iliac wing, C... OMIM:235510
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypopigmentation of hair, Cryptorchidism, Hypopigmentation of the skin, Ch... ORPHA:398079
Mucopolysaccharidosis Type 3
Generalized hirsutism, Coarse hair, Opacification of the corneal stroma, Hyperactivity, Adenoidit... ORPHA:581
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
2-3 toe syndactyly, Cryptorchidism, Supernumerary nipple, Tapered finger, Highly arched eyebrow, ... OMIM:618653
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Slender long bone, Cryptorchidism, Thin ribs, Hyperactivity, Sparse eyebr... OMIM:234100
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cryptorchidism, Cataract, Arachnodactyly, Abnormality of hair texture, ... ORPHA:96169
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Long eyelashes, Cryptorchidism, Hyperactivity, Astigmatism, Loose anagen hair, Hyperpigmentation ... OMIM:607721
Distal Trisomy 17Q
Accessory spleen, Cryptorchidism, Hyperactivity, Hand polydactyly, Arachnodactyly, Hallux valgus,... ORPHA:3379
47,Xyy Syndrome
Cryptorchidism, Hyperactivity, Macroorchidism, Finger clinodactyly, Increased circulating gonadot... ORPHA:8
Dubowitz Syndrome
Sparse lateral eyebrow, Cryptorchidism, Clinodactyly of the 5th finger, Hyperactivity, Hypoplasia... OMIM:223370
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Anterior pituitary hypoplasia, Cryptorchidism, Hypopigmentation of the ... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Anterior pituitary hypoplasia, Cryptorchidism, Hypopigmentation of the ... ORPHA:98793
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Anterior pituitary hypoplasia, Cryptorchidism, Hypopigmentation of the ... ORPHA:177904
Achalasia-Addisonianism-Alacrima Syndrome
Hyperpigmentation of the skin, Anisocoria OMIM:231550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Anterior pituitary hypoplasia, Cryptorchidism, Hypopigmentation of the ... ORPHA:177901
Smith-Lemli-Opitz Syndrome
Brachydactyly, Hypopigmentation of hair, Finger syndactyly, 2-3 toe syndactyly, Postaxial foot po... ORPHA:818
Prader-Willi Syndrome
Small pituitary gland, Hypopigmentation of hair, Cryptorchidism, Hypopigmentation of the skin, Sm... ORPHA:739
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypopigmentation of hair, Cryptorchidism, Hypopigmentation of the skin, Ch... ORPHA:398069
Coats Disease
Leukocoria OMIM:300216
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Persistent pupillary membrane, Lens subluxation, Cortic... OMIM:267750
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Peters anomaly, Buphthalmos OMIM:613150
Autosomal Recessive Faciodigitogenital Syndrome
Brachydactyly, Widow's peak, Hypopigmentation of hair, Finger syndactyly, Coarse hair, Clinodacty... ORPHA:1974
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Wiedemann-Steiner Syndrome
Generalized hirsutism, Clinodactyly, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebro... ORPHA:319182
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperactivity OMIM:609152
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Anterior pituitary hypoplasia, Cryptorchidism, Hypopigmentation of the ... ORPHA:398073
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Hip dysplasia, Hammertoe, Anisocoria ORPHA:99949
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Multiple cafe-au-lait spots, Leukocoria, Short lower limbs ORPHA:1556
Norrie Disease
Hypoplasia of the iris, Cryptorchidism, Sclerocornea, Cataract, Corneal opacity, Aplasia/Hypoplas... ORPHA:649
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Degcags Syndrome
Pancytopenia, Cholestasis, Cryptorchidism, Short thumb, Iron deficiency anemia, Anemia, Hypertric... OMIM:619488
Coffin-Siris Syndrome
Small nail, Clinodactyly, Prominent eyelashes, Hepatoblastoma, Cryptorchidism, Thick eyebrow, Hyp... ORPHA:1465
Retinoblastoma
Heterochromia iridis, Leukemia, Uveitis, Abnormality of retinal pigmentation, Pineoblastoma, Leuk... ORPHA:790
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Coarse hair, Hyperconvex fingernails, Short metacarpal, Thick eyeb... OMIM:303600
Alacrima, Achalasia, And Mental Retardation Syndrome
High anterior hairline, Anisocoria OMIM:615510
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Hypoplasia of the iris, Cataract, Posterior lent... OMIM:609049
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hypopigmentation of hair, Hypopigmentation of the skin, Rachit... OMIM:219800
Oculoectodermal Syndrome
Microcornea, Astigmatism, Supernumerary nipple, Hyperactivity, Limbal dermoid, Hyperpigmentation ... OMIM:600268
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Mend Syndrome
2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Hyperactivity, Cataract, Hand polydactyl... ORPHA:401973
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Astigmatism, Highly arched eyebrow, Hallux valgus, Genu valgum, Microcornea, Cata... ORPHA:261552
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:99819
Craniorachischisis
Bifid sternum ORPHA:63260
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Clinodactyly of the 5th finger, Thick eyebrow, Highly arched eyebrow, Hypoplastic... OMIM:180849
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:424
Retinoblastoma
Pinealoma, Leukocoria, Leukemia OMIM:180200
Tuberous Sclerosis Complex
Hypomelanotic macule, Pulmonary lymphangiomyomatosis, Hyperactivity, Parathyroid adenoma, Ungual ... ORPHA:805
Superficial Siderosis
Anisocoria ORPHA:247245
Mowat-Wilson Syndrome
Chorioretinal coloboma, Cryptorchidism, Microcornea, Supernumerary nipple, Cataract, Broad eyebro... OMIM:235730
Vascular Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Congenital h... ORPHA:286
Histidinemia
Hyperactivity ORPHA:2157

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term growth arrest Hps6em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hps6.

No publications found that use IMPC mice or data for Hps6.

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MGI Allele Allele Type Produced
Hps6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hps6em1(IMPC)Tcp Intra-exon deletion Mice
Hps6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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