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Gene: Tmem72 MGI:2442707

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Gene Summary

Name:
transmembrane protein 72
Synonyms:
C230095G01Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased lean body mass Tmem72tm1b(KOMP)Wtsi HOM Early adult 3.11×10-09
abnormal coat/hair pigmentation Tmem72tm1b(KOMP)Wtsi HOM Late adult 5.94×10-07
decreased blood urea nitrogen level Tmem72tm1b(KOMP)Wtsi HOM Late adult 1.25×10-06
decreased total body fat amount Tmem72tm1b(KOMP)Wtsi HOM Early adult 7.49×10-11
increased startle reflex Tmem72tm1b(KOMP)Wtsi HOM Early adult 1.91×10-05
increased erythrocyte cell number Tmem72tm1b(KOMP)Wtsi HOM Early adult 2.84×10-06
increased hemoglobin content Tmem72tm1b(KOMP)Wtsi HOM   Early adult 1.70×10-05
decreased total body fat amount Tmem72tm1b(KOMP)Wtsi HOM Late adult 6.86×10-05
decreased bone mineral density Tmem72tm1b(KOMP)Wtsi HOM   Early adult 8.42×10-06
increased circulating phosphate level Tmem72tm1b(KOMP)Wtsi HOM Late adult 8.61×10-09
increased hematocrit Tmem72tm1b(KOMP)Wtsi HOM Early adult 4.66×10-08
increased grip strength Tmem72tm1b(KOMP)Wtsi HOM   Early adult 5.05×10-07
increased grip strength Tmem72tm1b(KOMP)Wtsi HOM Late adult 1.53×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tmem72 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmem72 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Calciphylaxis
Hyperphosphatemia, Cellulitis ORPHA:280062
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Hypocalcemia OMIM:612462
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypermanganesemia With Dystonia 1
Tremor, Polycythemia, Dystonia OMIM:613280
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Irregu... ORPHA:428
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull ba... ORPHA:2905
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia OMIM:103580
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Enamel hypoplasia, Hyperphosphatemia OMIM:211900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc... ORPHA:90041
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hypocalcemic... ORPHA:94089
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... OMIM:611490
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Macular scar OMIM:239000
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Dent Disease 2
Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Atrophic scars, Polycythemia, Anemia ORPHA:542643
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hypocalcemic... ORPHA:79444
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides, Melanocytic nevus OMIM:101800
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... OMIM:224120
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia ORPHA:2611
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia ORPHA:93160
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hypocalcemic... ORPHA:79443
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Increased adipose tissue ORPHA:71526
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia OMIM:606812
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Action tremor, Dystonia ORPHA:309854
Colchicine Poisoning
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... ORPHA:31824
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... OMIM:612561
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Obesity And Hypopigmentation
Red hair OMIM:620195
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:182900
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Enamel hypomineralization, ... OMIM:307800
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... OMIM:618156
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Ogden Syndrome
Torticollis, Inguinal hernia, Iron deficiency anemia, Minimal subcutaneous fat, Umbilical hernia,... OMIM:300855
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia OMIM:156400
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis OMIM:232800
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... OMIM:260400
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s... ORPHA:405
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Large for gestational age, Splenom... ORPHA:116
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:616881
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... ORPHA:99867
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Abnormality of neutrophil physiology, Impair... ORPHA:2968
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Reduced blood urea n... OMIM:219800
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Brittle Cornea Syndrome 1
Atypical scarring of skin, Red hair, Dentinogenesis imperfecta OMIM:229200
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Fibrous Dysplasia Of Bone
Large cafe-au-lait macules with irregular margins, Multiple cafe-au-lait spots, Hypercalcemia, Hy... ORPHA:249
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Raine Syndrome
Arthrogryposis multiplex congenita, Enamel hypoplasia, Highly arched eyebrow, Hypophosphatemia OMIM:259775
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Dent Disease 1
Hypophosphatemia OMIM:300009
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lead Poisoning
Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... ORPHA:330015
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:617864
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morpholog... ORPHA:534
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Weight loss, Normochromic anemia, Reduced hematocrit, Chorioretinal scar ORPHA:91500
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Opsismodysplasia
Hypophosphatemia OMIM:258480
Mccune-Albright Syndrome
Large cafe-au-lait macules with irregular margins, Hypophosphatemia ORPHA:562
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Pearson Syndrome
Hypomagnesemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalanine... ORPHA:699
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Parathyroid Carcinoma
Lipoma, Hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:143
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness ORPHA:847
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... ORPHA:79277
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Limited knee extension, Laryn... ORPHA:845
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Syndromic Diarrhea
Inguinal hernia, Brittle hair, Hypopigmentation of hair, Abnormality of iron homeostasis, Uncomba... ORPHA:84064
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Abnormality of hair texture, Hypophosphatemia ORPHA:667
X-Linked Hypophosphatemia
Cellulitis, Enthesitis, Odontodysplasia, Hypophosphatemia ORPHA:89936
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly ORPHA:90354
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Enthesitis ORPHA:289176
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Abnormal odontoid tissue morphology, Hepatosplenomegaly ORPHA:79255
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture ORPHA:96169
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive OMIM:617527
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... ORPHA:167
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M... ORPHA:79430
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Menkes Disease
Inguinal hernia, Hypopigmentation of hair, Woolly hair, Atypical scarring of skin, Hernia, Sparse... ORPHA:565
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive OMIM:615574
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:2719
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Flexion contracture, Hypopigmentation of the skin ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Vici Syndrome
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al... OMIM:242840
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Osteoporosis, Dystonia, Uterine prolapse,... ORPHA:438213
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Hiatus hernia, Abnormal eyelash morphology... OMIM:619488
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abn... ORPHA:818
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Joint hypermobility OMIM:619522

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.

There is no histopathology data for Tmem72

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 Tmem72.

No publications found that use IMPC mice or data for Tmem72.

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MGI Allele Allele Type Produced
Tmem72tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem72tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmem72tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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